HsaEX1023158 @ hg38
Exon Skipping
Gene
ENSG00000147316 | MCPH1
Description
microcephalin 1 [Source:HGNC Symbol;Acc:HGNC:6954]
Coordinates
chr8:6406105-6409370:+
Coord C1 exon
chr8:6406105-6406371
Coord A exon
chr8:6406528-6406689
Coord C2 exon
chr8:6409285-6409370
Length
162 bp
Sequences
Splice sites
3' ss Seq
CCTCCAGCCTCCCGCCTCACCTA
3' ss Score
-4.65
5' ss Seq
AAGGTGAGG
5' ss Score
9.16
Exon sequences
Seq C1 exon
TGGGTCTGAGGTCTCGGGGTCCCCCATCCCCGGGATCGGAGGTCCGGCTCCCCGGAGCAGGCAGGGCGGTGCGTCTGGCCCTGAACAGTAACGTGGCGCGCCAGCCCCAGGTGGTGTCGGGCTAGGGGGGCATAACGGTGCCGAAAGTCCGCACAAAGCCGTCCGCTGGGGTCCCGCCGCGTCCGCGAGGGAATGACTGTGCCCCCTCCCCTTCCTGATCCTCAGCTCAGGTGAGCCCAGATGAGGCGCCGGGTAGCTTCTAAGTCA
Seq A exon
CTACAGAGAAATCCCGGAAACGCGGATTCAGCGGAGCGCGGTGACGGCGGCGCGCTCACCCCGCGCATGCCCAGTGCCCGCGCGCGCCGCCAGGCTCGCAAGCACCGCGTAGGCCAGCTGGCCGGATCCCGCCGTCTGTCATGGCGGCCCCCATCCTGAAAG
Seq C2 exon
TGGCCTATGTTGAAGTGTGGTCATCCAATGGAACAGAAAATTATTCAAAGACATTTACAACACAGCTTGTGGATATGGGGGCAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000147316_MULTIEX1-1/3=C1-C2
Average complexity
ME(1-2[100=100])
Mappability confidence:
100%=100=100%
Protein Impact
In the CDS, with uncertain impact
No structure available
Features
Disorder rate (Iupred):
C1=NA A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NA
A:
NO
C2:
PF127382=PTCB-BRCT=PU(43.3=93.5)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCAGGTGGTGTCGGGCTA
R:
TTTGCCCCCATATCCACAAGC
Band lengths:
246-408
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains